Congenital Disorders of Glycosylation: What Clinicians Need to Know?
clinical presentation
congenital disorders of glycosylation
isoelectric focusing of serum transferrin
next-generation sequencing
treatment
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
26
05
2021
accepted:
10
08
2021
entrez:
20
9
2021
pubmed:
21
9
2021
medline:
21
9
2021
Statut:
epublish
Résumé
Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous disorders characterized by defects in the synthesis of glycans and their attachment to proteins and lipids. This manuscript aims to provide a classification of the clinical presentation, diagnostic methods, and treatment of CDG based on the literature review and our own experience (referral center in Poland). A diagnostic algorithm for CDG was also proposed. Isoelectric focusing (IEF) of serum transferrin (Tf) is still the method of choice for diagnosing N-glycosylation disorders associated with sialic acid deficiency. Nowadays, high-performance liquid chromatography, capillary zone electrophoresis, and mass spectrometry techniques are used, although they are not routinely available. Since next-generation sequencing became more widely available, an improvement in diagnostics has been observed, with more patients and novel CDG subtypes being reported. Early and accurate diagnosis of CDG is crucial for timely implementation of appropriate therapies and improving clinical outcomes. However, causative treatment is available only for few CDG types.
Identifiants
pubmed: 34540767
doi: 10.3389/fped.2021.715151
pmc: PMC8446601
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
715151Informations de copyright
Copyright © 2021 Lipiński and Tylki-Szymańska.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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